Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.

Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We describe a novel fibrovascular proliferation in the retina of two affected members of a KCNJ13-related LCA family with a homozygous c.458C > T, p.(Thr153Ile) missense mutation. Optical coherence tomography retinal imaging of the kcnj13 mutant zebrafish (obelixtd15 c.502T > C, p.[Phe168Leu]) revealed a late onset retinal degeneration at 12 months, with retinal thinning and associated retinovascular changes, including increased vessel calibre and vitreous deposits. Both human and zebrafish variants are missense and located within the conserved transmembrane M2 protein domain, suggesting that disruption of this region may contribute to retinovascular changes as an additional feature to the previously described LCA phenotype. Close monitoring of other patients with similar mutations may be required to minimise the ensuing retinal damage.

Widefield imaging with Clarus fundus camera vs slit lamp fundus examination in assessing patients referred from the National Health Service diabetic retinopathy screening programme.

OBJECTIVES: To compare diabetic retinopathy (DR) grading and management plan between virtual review using widefield Clarus imaging and macular optical coherence tomography (OCT) versus slit lamp clinical examination and macular OCT. METHOD: New referrals over 3 months from the National Diabetic Eye Screening programme (DESP) were screened. Patients who had both Clarus widefield imaging and macular OCT were included. All patients underwent slit lamp examination in clinic. Data obtained from electronic patient records included referral reason, DR grading and management plan. Two graders retrospectively reviewed imaging and formulated a management plan blinded to results from patients' clinic visit. Results from virtual examination were compared with those from slit lamp examination. RESULTS: One-hundred and two eyes of 51 patients were assessed. 11 fundus photos from 7 patients and 15 fundus photos from 10 patients were deemed inadequate by grader G1 and G2, respectively. Eighteen (35%) patients and 11 (22%) patients from virtual assessment by G1 and G2, respectively were found to need a face a face appointment to aid diagnosis. Compared to slit lamp examination, 15% and 7.5% of patients from G1 and G2's virtual assessment respectively had different proposed management plan. Agreement of DR grading between both virtual graders and slit lamp examination was fair (Kappa's coefficient = 0.56). One case of slit lamp noted retinal neovascularization, which was graded as background retinopathy by DESP was also graded as such on virtual assessment. CONCLUSION: Widefield Clarus and OCT imaging allowed two-thirds of DESP referrals to be safely managed virtually.

Phacoemulsification Combined With Endoscopic Versus Transscleral Cyclophotocoagulation in Poorly Controlled Glaucoma: A Comparative Case Series.

OBJECTIVE: The objective of this study was to report medium-term outcomes of a novel combination of phacoemulsification with transscleral cyclophotocoagulation (phaco-TCP) compared with combined phacoemulsification and endoscopic cyclophotocoagulation (phaco-ECP) in patients with uncontrolled or suboptimally controlled glaucoma and coexisting cataract. MATERIALS AND METHODS: Retrospective case series of 80 consecutive patients with a minimum of 12 months of follow-up. In total, 46 eyes underwent phaco-ECP and 34 phaco-TCP. Success was defined as intraocular pressure (IOP) between 6 and 21 mm Hg with ≥20% reduction from preoperative IOP (with no increase in ocular hypotensive medications or further glaucoma surgery). Secondary outcomes were change in IOP, number of ocular hypotensive medications and safety. RESULTS: The mean follow-up was 32.6 ±10.3 months. Preoperative clinical characteristics were similar in both groups. At latest follow-up, success rate was greater with phaco-TCP than phaco-ECP (67.6% and 47.8%, P=0.037). IOP was also significantly lower after phaco-TCP (14.88±5.57 mm Hg, from 22.62±6.52 mm Hg) than phaco-ECP (18.07±6.72 mm Hg, from 22.83±7.88, P=0.0273). Ocular hypotensive medications required reduced similarly after phaco-TCP (from 3.38±0.88 to 2.65±1.04 medications, P=0.0012) and phaco-ECP (from 3.07±0.929 to 2.63±1.42 medications, P=0.0108). There were no cases of hypotony or reduction in vision related to glaucoma with either surgical intervention and a similar proportion required further glaucoma surgery (phaco-ECP 15.2%, phako-TCP 5.9%, P=0.2884). CONCLUSIONS: Phaco-TCP appears more successful in controlling IOP than phaco-ECP with similar safety. Further investigation is warranted of this newly proposed combination which may be particularly useful where access or experience with ECP or other minimally invasive glaucoma surgery is limited.

Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia.

BACKGROUND AND OBJECTIVE: To identify qualitative and quantitative features of spectral-domain optical coherence tomography (SD-OCT) as prognostic indicators of visual acuity (VA) loss in patients with choroideremia (CHM). PATIENTS AND METHODS: Retrospective study of 57 male patients with CHM. Central foveal thickness (CFT), subfoveal choroidal thickness (SCT), fundus autofluorescence area, and evidence of outer retinal and choroidal degeneration were analyzed by SD-OCT. RESULTS: Best-corrected VA logMAR at baseline was associated with CFT at baseline (r = -0.47; P < .01), CFT at most recent follow-up (r = -0.27; P < .01), and SCT at baseline (r = -0.31; P < .01). Ellipsoid zone (EZ) rupture was associated with a higher CFT loss (r = 0.33; P < .01) and macular cystic spaces (MCS) with a reduction in VA over time (hazard risk = 0.48; P = .05). CONCLUSION: Reduced CFT at baseline, EZ rupture, and MCS are poor prognostic indicators for VA outcome. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:711-716.].

Air entry into the anterior chamber post intravitreal injection of Eylea.

An 84-year-old man had air entry into the anterior chamber following intravitreal injection. The air bubble was reabsorbed over time without any complications. No further problems occurred with subsequent intravitreal injections.

A survey of children's reported experience in outpatient pediatric ophthalmology clinics.

PURPOSE: Patient-reported experience measures influence contemporary health care. To monitor the experience of children in health care, some inherent difficulties must be overcome. The authors sampled the opinion of children in outpatient pediatric ophthalmology clinics. METHODS: Questionnaires were designed and distributed to children ages 2 to 16 years in pediatric ophthalmology clinics over three sites. RESULTS: Ninety-three forms were completed by children ages 2 to 16 years. The average duration of clinic visits was 69 minutes. Children commented that helpful staff improved their experience. Waiting times and boredom were negative issues raised consistently. Children particularly enjoyed visual acuity testing, which they also described as the most challenging aspect of the clinic. On average, patients found eye drops only mildly painful. CONCLUSIONS: Various areas for service improvement were identified from this study, including the value of keeping children occupied and minimizing waiting times. It was not clear to children which healthcare professionals they were seeing and this was an area of confusion. Adolescent patients felt the clinic was too childish. Sampling children's opinions through questionnaires had some limitations in terms of some inconsistencies of response, incomplete questionnaires, and multiple answers, but overall provided useful information specific to the clinics.

Isolated extraocular muscle abscess presenting 40 years after squint surgery.

A 57-year-old man presented with an abscess localised to the lateral rectus region. He was treated as a case of orbital cellulitis because of the presence of soft tissue swelling with a localised abscess discharging through the conjunctiva with associated reduction of visual acuity and restriction of ocular movements laterally. No specific risk factors were identified but an ultrasound scan picked up a hyperechoic signal suggestive of a foreign body within the abscess. Surgical exploration did not identify a foreign body but fibrotic changes between the globe and the lateral rectus muscle were found which was suggestive of previous squint surgery. This was confirmed by the patient later on specific questioning. Periorbital infection is a rare occurrence after squint surgery and reported cases are mainly within a week after surgery. Orbital abscess probably related to an old suture granuloma 40 years after surgery has not been documented before.